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@ARTICLE{VzquezGarca:307369,
      author       = {C. Vázquez García and B. Obermayer and B. Keller and M.
                      Lebedin and C. Ratswohl and H. Abolhassani and A. Busse$^*$
                      and M. Di Virgilio and S. Mathas and D. Speiser and D. Beule
                      and Q. Pan-Hammarström and K. Warnatz and K. de la Rosa},
      title        = {{R}ecombination junctions from antibody isotype switching
                      classify immune and {DNA} repair dysfunction.},
      journal      = {Nature Communications},
      volume       = {nn},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2025-03013},
      pages        = {nn},
      year         = {2025},
      note         = {epub},
      abstract     = {Personalized assessment of immunocompetence and DNA
                      double-strand break (DSB) repair requires methods that are
                      sensitive to genetic and molecular complexity beyond the
                      well-known monogenic disorders. Inspired by decades of
                      research using B cells to study DNA repair processes, here
                      we present SWIBRID (SWItch junction Breakpoint Repertoire
                      IDentification), a tool to systematically profile genomic
                      junctions generated in vivo during antibody class switch
                      recombination (CSR) in B cells. As CSR junctions reflect
                      immune diversity and DNA repair proficiency, SWIBRID detects
                      phenotypic manifestations of deficiencies via a highly
                      scalable, blood-based PCR followed by long-read sequencing
                      and bioinformatic analysis. We show that specific DNA repair
                      defects, including cancer-associated mutations, exhibit
                      distinct CSR junction patterns. Notably, SWIBRID
                      distinguishes different types of DSB repair knockouts and
                      identifies the respective genetic defect in cell lines. In
                      68 patients, we detect immunodeficiencies and DNA repair
                      defects with high accuracy (area under the curve 0.99 and
                      0.84, respectively), and identify previously uncharacterized
                      patient groups as well as patient-specific CSR junction
                      signatures. With SWIBRID, we seek to advance the
                      identification of pathogenic defects, support early
                      diagnosis, and address molecular heterogeneity that drives
                      variable clinical outcomes.},
      cin          = {BE01},
      ddc          = {500},
      cid          = {I:(DE-He78)BE01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41419734},
      doi          = {10.1038/s41467-025-67206-5},
      url          = {https://inrepo02.dkfz.de/record/307369},
}